• Clinical and Experimental Reproductive Medicine
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• v.26 no.3
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• pp.441-445
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• 1999

Objective: To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in recurrent spontaneous abortion associated with hyperhomocysteinemia. Material and Method: The blood sample of habitual aborter with high fasting homocysteine level was tested by PCR - RFLP method. Results: The patient was found to be a homozygosity for MTHFR gene mutation that was confirmed by the finding which is consistent with the mutation at the nucleotide 677 C to T, corresponding to Ala to Val. Conclusions: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. Therefore, the MTHFR mutation should be examined in the workup of recurrent spontaneous abortion showing hyperhomocysteinemia.

• Clinical and Experimental Reproductive Medicine
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• v.28 no.3
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• pp.209-213
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• 2001

Objective : To evaluate factor XII deficiency in patients with recurrent spontaneous abortion and its relation to aPTT. Material and Method: Factor XII was analyzed by clotting method. Results: Of 70 patients with recurrent spontaneous abortion, there were 35 cases of factor XII deficiency. Among them, there were only 3 cases of prolonged aPTT. Conclusions: It is still unclear whether factor XII deficiency is related to recurrent spontaneous abortion. Molecular approaches should be used to understand further the causal relationship. But based on this result, in the workup of patients with recurrent spontaneous abortion, factor XII should be included. aPTT is not likely to represent the abnormality of factor XII.

• Clinical and Experimental Reproductive Medicine
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• v.29 no.2
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• pp.91-96
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• 2002

Objective : To evaluate luteinizing hormone (LH) in patients with infertility and recurrent spontaneous abortion. Material and Method: LH was tested by solid phase immunoradiometric assay based on monoclonal and polyclonal anti-LH antibodies. Results: Of 100 infertile patients, the number of less than 5 mIU/ml, 5$\sim$10 mIU/ml, greater than 10 mIU/ml in LH level was 67 (67%), 22 (22%), 11 (11%), respectively. Of 100 patients with recurrent spontaneous abortion, the number of less than 5 mIU/ml, 5$\sim$10 mIU/ml, greater than 10 mIU/ml in LH level was 79 (79%), 18 (18%), 3 (3%), respectively. There was a significant difference between patients with infertility and recurrent spontaneous abortion only in the group with LH level greater than 10 mIU/ml (p=.0325). Conclusions: High LH in the follicular phase is known to decrease pregnancy rate and increase abortion rate. But in this study the incidence of high LH in patients with recurrent spontaneous abortion was low. On the contrary, there was a significant increase of LH in infertile patients. So recurrent spontaneous abortion does not seem to be related to high LH level.

• Clinical and Experimental Reproductive Medicine
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• v.28 no.3
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• pp.247-253
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• 2001

Objective: To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in patients with recurrent spontaneous abortion. Material and Method: The blood samples of patients with recurrent spontaneous abortion were tested by PCR-RFLP method. Results: Of 51 cases of study group, 14 (27.5%) were normal, 25 (49.0%) were heterozygosity, and 12 (23.5%) were homozygosity. Of 58 cases of control group, 20 (34.5%) were normal, 30 (51.7%) were heterozygosity, and 8 (13.8%) were homozygosity. But the difference between two groups was not significant (p=0.190). Conclusion: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. Therefore, the study for MTHFR mutation should be included in the workup of recurrent spontaneous abortion.

• Clinical and Experimental Reproductive Medicine
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• v.28 no.4
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• pp.301-305
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• 2001

Objective : To analyze the antithrombin II deficiency in patients with recurrent spontaneous abortion. Material and Method: The blood samples were tested by chromogenic assay to evaluate the activity of antithrombin III. Results: There was only one case of antithrombin III deficiency. This patient experienced one neonatal death after delivery and one FDIU (fetal death in utero). And also this patient showed a lupus anticoagulant and the prolongation of PTT. Conclusions: Women with recurrent miscarriage who have no obvious identified cause should consider hematologic screening. Antithrombin III deficiency could be a cause of recurrent spontaneous abortion. But the incidence is very rare in Korean patients.

• Clinical and Experimental Reproductive Medicine
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• v.25 no.2
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• pp.135-140
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• 1998

It was reported that the etiologies of recurrent spontaneous abortion are immunologic factors, endocrinologic problems, anatomical abnormalities, genetic abnormalities, infection, and unexplained factors. Among those etiologic factors, genetic abnormalities occur in about 5% of the couples who experience recurrent spontaneous abortions, and most common parental chromosomal abnormality contributing to recurrent abortion is balanced translocation. The advent of in vitro fertilization (IVF), the development of skills associated with the handling of human embryo, and an explosion of knowledge in molecular biology have opened the possibility of early diagnosis of genetic disease in preimplantation embryos. Therefore preimplantation genetic diagnosis (PGD) is indicated for couples, infertile or not, at risk of transmitting a genetic disease. A case of successful pregnancy and term delivery by PGD using fluorescence in situ hybridization (FISH) technique in patient with recurrent spontaneous abortion due to balanced translocation is presented with brief review of literatures.

• Clinical and Experimental Reproductive Medicine
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• v.27 no.3
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• pp.307-311
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• 2000

Objective: To report the successful delivery in a patient of recurrent spontaneous abortion caused by chromosomal abnormality. Material and Method: Case report. Results: Twelve oocytes were obtained by in vitro fertilization. Of eleven oocytes fertilized, two embryos turned out to be normal by using fluorescent in situ hybridization on blastomere biopsy. The patient succeeded in pregnancy and the result of amniocentesis was found to be normal. She delivered the healthy female baby by cesarean section. Conclusions: The successful delivery is possible in recurrent spontaneous abortion related with reciprocal translocation by using preimplantation genetic diagnosis.

• Clinical and Experimental Reproductive Medicine
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• v.29 no.1
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• pp.29-35
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• 2002

Objective : To report the prevalence of lupus anticoagulants and anticardiolipin antibodies in patients with recurrent spontaneous abortion and infertility. Material and Method: Lupus anticoagulants and anticardiolipin antibodies were analyzed by Diluted Russell's Viper Venom Test (DRVVT) and solid phase enzyme immunoassay, respectively. Results : In 200 patients with infertility, there were 6 cases (3%) with positive lupus anticoagulants or anticardiolipin antibodies. Of these, 3 patients (1.5%) showed positive lupus anticoagulants and anticardiolipin antibodies, respectively. In 120 patients with recurrent spontaneous abortion, there were 13 cases (10.8%) of positive lupus anticoagulants or anticardiolipin antibodies. Of these, one patient (1%) showed lupus anticoagulants and 12 patients (10%) showed anticardiolipin antibodies. But in two groups, there was no cases with positive lupus anticoagulants and anticardiolipin antibodies. Conclusion: Lupus anticoagulants and anticardiolipin antibodies are definite cause of recurrent spontaneous abortion. There has been a speculation that they might be associated with infertility and repeated IVF failures. But it was found that the role of lupus anticoagulants and anticardiolipin antibodies in these cases are not clear.

• Clinical and Experimental Reproductive Medicine
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• v.26 no.3
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• pp.475-481
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• 1999

Objective: The purpose of this investigation is to determine the frequency of chromosomal or genetic causes of recurrent spontaneous abortion. Methods: A cytogenetic study was made in of 921 couples for 13 years from January 1984 to December 1997 in which the woman was ascertained to have had two or more spontaneous abortions at our Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University. Results: The overall incidence of chromosome anomaly was 80 out of 921 (8.7%). There were 34 cases (3.69%) of reciprocal balanced translocation and 13 cases (1.41%) of Robertsonian translocation. Also 17 cases (1.85%) of inversion and 5 cases (0.54%) of X chromosome mosiacism was observed. In the case of reciprocal balanced translocation, chromosome 8,6,7,13 were preferentially involved over others. And in the case of Robertsonian translocation, chromosome 13 was preferentially involved. Conclusion: Our study demonstrates that cytogenetic analysis is indicated in couples with 2 or more spontaneous abortion and about half of these disorders are reciprocal balanced or Robertsonian translocations.

• Clinical and Experimental Reproductive Medicine
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• v.18 no.1
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• pp.113-120
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• 1991

Etiologic classification was performed in 155 patients with recurrent spontaneous abortion history. The incidence was 9.3% among 1658 pregnant women at Hanyang university hospital during the same period. In etiologic classification, 37 cases of on-going patients for diagnostic evaluation were excluded. Of the remained 118 patients, the patients with unknown etiology were 32 cases (27.1%), and 86 cases were classified into each etiologies using appropriate diagnostic modalities. Anatomic causes were the largest etiology, which revealed 46.6% (55 among 118 patients). The next etiology was immunologic cause, which revealed 24.6% (29 patients). Of the 86 patients who have at least one cause, 40.7% (35 among 86) have two or more etiologies. Furthermore, six cases (7%) have 3 combined etiologies. The uterine synechia and/or incompetent internal os of the cervix, namaly anatomic causes, revealed highest combination ratio than other etilogies. The popular abortion technique in Korea, D&C, seems to be main factors for these anatmic causes. The combined causes rather than single cause of recurrent spontaneous abortion were unique situation in Korea especially with anatomic etiologies. From this point of view, we think anatomic etiologies should be rule out first in the evaluation of the patients. For this purpose, we believe hysteroscopy would be helpful as a diagnostic work-up and treatment modality in the management of recurrent spontaneous abortion patients in Korea.